• Neurobiology of aging · Jul 2012

    Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis.

    • Kelly L Williams, Jennifer A Solski, Garth A Nicholson, and Ian P Blair.
    • Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia.
    • Neurobiol. Aging. 2012 Jul 1; 33 (7): 1488.e15-6.

    AbstractAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons in the motor cortex, brain stem and spinal cord. Mutations in the valosin-containing protein gene (VCP) were recently described in ALS families. Some of these families included diagnoses of other clinical features including frontotemporal dementia, Paget's disease, inclusion body myopathy, Parkinsonism and limb weakness. We sought to determine the prevalence of VCP mutations in Australian familial (n = 131) and sporadic (n = 48) ALS cohorts diagnosed with classic ALS. No mutations were identified indicating that VCP mutations are not a common cause of classic ALS among Australian cases with predominantly European ancestry.Copyright © 2012 Elsevier Inc. All rights reserved.

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